ArticleFrontiers in pediatrics2022
Rare cause of coronary artery ectasia in children: A case report of methylmalonic acidemia with hyperhomocysteinemia.
Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 2 citations in OpenAlex.
- Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect.Frontiers in cardiovascular medicine · 2025Article
- Anesthetic management of a pediatric patient with methylmalonic acidemia combined with hyperhomocysteinemia: A case report.Clinical case reports · 2023Article
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4 authors at 1 institution in 1 country.
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Abstract
Background: Methylmalonic acidemia (MMA) with hyperhomocysteinemia is caused by cobalamin deficiency, mainly due to disturbance of cobalamin C (cblC) metabolism. Its clinical manifestations involve many organs. However, cases of coronary artery ectasia have been rarely reported. Case presentation: Here, we report the case of a 4-year-old girl who was hospitalized mainly because of pallor, brown urine, and fatigue, followed by hypertension, renal insufficiency, hemolytic anemia, cardiac enlargement, cardiac insufficiency, and coronary artery ectasia. Thrombotic microangiopathy (TMA) was confirmed by renal pathological examination. Metabolic examination showed hyperhomocysteinemia and methylmalonic aciduria. Furthermore, genetic assessment confirmed Conclusion: The clinical manifestation of cblC deficiency is atypical. This critical condition may be associated with multiple organ involvement. A rare complication, coronary artery ectasia, can also occur. Early identification, careful evaluation, and appropriate treatment are crucially important for the improvement of this disease prognosis.
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